rs121918472
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 6 | Increased venous thromboembolism risk (> 6x) |
(C;T) | 5.9 | Likely miscall in Ancestry data; otherwise, increased risk (~6x) for venous thromboembolism |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 93879306 |
Gene | PROS1 |
is a | snp |
is | mentioned by |
dbSNP | rs121918472 |
dbSNP (classic) | rs121918472 |
ClinGen | rs121918472 |
ebi | rs121918472 |
HLI | rs121918472 |
Exac | rs121918472 |
Gnomad | rs121918472 |
Varsome | rs121918472 |
LitVar | rs121918472 |
Map | rs121918472 |
PheGenI | rs121918472 |
Biobank | rs121918472 |
1000 genomes | rs121918472 |
hgdp | rs121918472 |
ensembl | rs121918472 |
geneview | rs121918472 |
scholar | rs121918472 |
rs121918472 | |
pharmgkb | rs121918472 |
gwascentral | rs121918472 |
openSNP | rs121918472 |
23andMe | rs121918472 |
SNPshot | rs121918472 |
SNPdbe | rs121918472 |
MSV3d | rs121918472 |
GWAS Ctlg | rs121918472 |
GMAF | 0.0009183 |
Max Magnitude | 6 |
aka c.1501T>C (p.Ser501Pro or S501P)
The minor allele of this SNP, rs121918472(C), leads to a Protein S form known as the "Heerlen variant". Present in ~0.5% of healthy blood donors, this variant was considered to be a neutral polymorphism for many years even though it was associated with slightly reduced levels of free Protein S in plasma.
However, more recently, a 2017 study based on 4,000+ VTE patients has reported that heterozygotes for this variant are at significantly increased risk for venous thromboembolism ( (OR 6.6, CI:4.0–10.6, p=1.73x10e-14).[PMID 28374852]
ClinVar | |
---|---|
Risk | Rs121918472(C;C) rs121918472(G;G) |
Alt | Rs121918472(C;C) rs121918472(G;G) |
Reference | Rs121918472(T;T) |
Significance | Pathogenic |
Disease | Protein s heerlen Thrombophilia due to protein S deficiency not specified |
Variation | info |
Gene | PROS1 |
CLNDBN | Protein s heerlen Thrombophilia due to protein S deficiency, autosomal recessive not specified |
Reversed | 1 |
HGVS | NC_000003.11:g.93598150A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014244.17, RCV000205145.2, RCV000246742.1, |